Varaico: Literature-Extracted Genetic Variants

HUWE1

515 papers

RefSeq Summary

This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination...

Pfam Domains

DUF908aa 88–368UCSCDomain of Unknown Function (DUF908)

DUF913aa 430–814UCSCDomain of Unknown Function (DUF913)

UBA_7aa 1318–1359UCSCUBA-like domain

WWEaa 1616–1679UCSCWWE domain

UBMaa 2960–2994UCSCUbiquitin binding region

UBMaa 3009–3043UCSCUbiquitin binding region

Gene Aliases

HGNC Name

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

HGNC Alias Symbols

Ib772; KIAA0312; UREB1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 643 variants

17 papers

NM_031407.7

p.R4187C

c.12559C>T

16 papers

NM_031407.7

p.C1447*

c.4341C>A

11 papers

NM_031407.7

p.R2981H

c.8942G>A

11 papers

NM_031407.7

p.G4310R

c.12928G>C

10 papers

NM_031407.7

p.R4013W

c.12037C>T

10 papers

NM_031407.7

p.C4341S

c.13021T>A

10 papers

NM_031407.7

p.C4341S

c.13022G>C

8 papers

NM_031407.7

p.K48R

c.143A>G

8 papers

NM_031407.7

p.R110W

c.328C>T

8 papers

NM_031407.7

p.R110Q

c.329G>A

7 papers

NM_031407.7

p.R3219C

c.9655C>T

6 papers

NM_031407.7

p.H669Q

c.2007T>G